Vsx2 visual system homeobox 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vsx2provided by MGI
Official Full Name: visual system homeobox 2provided by MGI
Primary source: MGI:MGI:88401
See related: Ensembl:ENSMUSG00000021239 AllianceGenome:MGI:88401
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: or; Chx10; Hox10; Hox-10
Summary: This gene encodes a member of the Vsx (visual system homeobox) family which belongs to the larger PRD homeobox class. The encoded protein is required for eye organogenesis and controls retinal development. Disruption of this gene is associated with ocular retardation J (orJ), a mouse disease which causes microphthalmia, retinal degeneration and optic nerve aplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Expression: Biased expression in whole brain E14.5 (RPKM 1.2), CNS E14 (RPKM 0.9) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 D1; 12 39.28 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (84616602..84642231)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (84569828..84595457)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A framework to identify functional interactors that contribute to disrupted early retinal development in Vsx2 ocular retardation J mice.
Title: A framework to identify functional interactors that contribute to disrupted early retinal development in Vsx2 ocular retardation J mice.
Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis.
Title: Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis.
Vsx1 and Chx10 paralogs sequentially secure V2 interneuron identity during spinal cord development.
Title: Vsx1 and Chx10 paralogs sequentially secure V2 interneuron identity during spinal cord development.
Vsx2 represses Mitf in a cell-autonomous way. It also uses cell-nonautonomous mechanisms to regulate progenitor properties in the embryonic retina. Vsx2's role in regulating Mitf is in part separable from its role in promoting proliferation.
Title: Genetic chimeras reveal the autonomy requirements for Vsx2 in embryonic retinal progenitor cells.
The results of this study suggested that Lhx3/Chx10 medullary reticular formation neurons are involved in locomotion.
Title: Lhx3-Chx10 reticulospinal neurons in locomotor circuits.
Our data suggest that the phenotypic severity of the CVC mutant depends on the weakened DNA binding activity elicited by the CVC mutation and a previously unknown protein interaction between Vsx2 and its regulatory target Mitf.
Title: Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding.
analysis of the regulatory role of a conserved motif adjacent to the homeodomain of Hox10 proteins
Title: Regulatory role for a conserved motif adjacent to the homeodomain of Hox10 proteins.
Reducing GDF11 levels might promote restoration of retinal development in the microophthalmic Vsx2 mutant mouse.
Title: Restoration of retinal development in Vsx2 deficient mice by reduction of Gdf11 levels.
Data demonstrate that Hox10 genes play a critical role in the developing kidney.
Title: Hox10 genes function in kidney development in the differentiation and integration of the cortical stroma.
Blimp1 may play a role in photoreceptor development by repressing genes involved in bipolar cell fate specification and retinal cell proliferation in differentiating precursors; Blimp1 can bind to the Chx10 enhancer and repress Chx10 enhancer activity
Title: Blimp1 suppresses Chx10 expression in differentiating retinal photoreceptor precursors to ensure proper photoreceptor development.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (3) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal bipolar neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: visual system homeobox 2

Names: C. elegans ceh-10 homeo domain containing homolog; ceh-10 homeodomain-containing homolog; homeobox protein CHX10; ocular retardation

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301427.1 → NP_001288356.1 visual system homeobox 2 isoform 1

See identical proteins and their annotated locations for NP_001288356.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK143461, BC058806

Consensus CDS

CCDS79136.1

UniProtKB/TrEMBL

Q6PDC1

Related

ENSMUSP00000131009.3, ENSMUST00000169934.4

Conserved Domains (2) summary

pfam00046
Location:153 → 204

Homeobox; Homeobox domain

pfam03826
Location:319 → 336

OAR; OAR domain
NM_007701.3 → NP_031727.1 visual system homeobox 2 isoform 2

See identical proteins and their annotated locations for NP_031727.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1

Source sequence(s)

AK143461, BC031869, BC051245

Consensus CDS

CCDS36493.1

UniProtKB/Swiss-Prot

Q61412

UniProtKB/TrEMBL

Q80WF9

Related

ENSMUSP00000021665.6, ENSMUST00000021665.12

Conserved Domains (2) summary

pfam00046
Location:153 → 204

Homeobox; Homeobox domain

pfam03826
Location:300 → 317

OAR; OAR domain